Info
Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches
| Lysosomal Storage Disorders: Molecular Basis and Therapeutic Approaches |
| Autore | Moro Enrico |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 |
| Descrizione fisica | 1 online resource (301 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
A4GALT
alpha-galactosidase A animal models astrogliosis autophagy axon guidance biomarkers bone involvement cathepsin D chloroquine clathrin Dkk1 dried blood spot endocytic pathways endocytosis enzyme replacement therapy exosomes experimental therapies Fabry disease GAA biomarker Gaucher disease Gaucher Disease gene therapy GLA gene globotriaosyl-sphingosine (lysoGb3) globotriaosylceramide (Gb3) globotriaosylsphingosine glycogen hematopoietic stem cell transplantations Hurler syndrome IGF2R/M6P iPSC Krabbe disease lyso-Gb3 lysosomal diseases lysosomal storage disorder lysosomal storage disorders lysosomal targeting lysosomal α-glucosidase lysosome lysosomes MIP-1β mucolipidosis II mucopolysaccharidosis IIIB mucopolysaccharidosis type I muscle NAGLU neurodegenerative disease neuronal circuit neuronopathy newborn screening Osteoimmunology Osteopontin Parkinson disease pharmacological chaperone therapy pharmacological chaperones Pompe disease precision medicine psychosine quantitative proteomics RANK/RANKL rhGAA satellite cells second tier test sortilin substrate reduction therapy tandem mass spectrometry TGF-beta Twitcher mouse variant interpretation viral vectors visual cortex visual system Wnt/β-catenin Wnt3a α-galactosidase A |
| Formato | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Altri titoli varianti | Lysosomal Storage Disorders |
| Record Nr. | UNINA-9910557545503321 |
Moro Enrico
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2021 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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Newborn Screening for Cystic Fibrosis
| Newborn Screening for Cystic Fibrosis |
| Autore | Barben Jürg |
| Pubbl/distr/stampa | Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 |
| Descrizione fisica | 1 online resource (126 p.) |
| Soggetto topico | Medicine |
| Soggetto non controllato |
biochemical screening
bioethics CF screen positive CF transmembrane conductance regulator-related metabolic syndrome CFSPID cost cystic fibrosis cystic fibrosis screen positive diagnosis DNA DNA analysis dried blood spot extended genetic analysis health policy immunoreactive trypsin immunoreactive trypsin(ogen) immunoreactive trypsinogen incidence inconclusive diagnosis inconclusive diagnosis (CFSPID) malnutrition meconium ileus missed case n/a newborn bloodspot screening newborn screen newborn screening next generation sequencing pancreatitis associated protein parental information presumptive diagnosis prognosis psychological impact radioimmunoassay sensitivity sweat test target disorder therapy |
| Formato | Materiale a stampa |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione | eng |
| Record Nr. | UNINA-9910557291703321 |
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Barben Jürg
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| Basel, Switzerland, : MDPI - Multidisciplinary Digital Publishing Institute, 2020 | ||
| Materiale a stampa | ||
| Lo trovi qui: Univ. Federico II | ||
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